Variant report

Variant	rs34210576
Chromosome Location	chr12:57555275-57555276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57555126-57555326	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:57554710-57555995	U87	brain:	n/a	n/a
3	POLR2A	chr12:57554736-57555291	U87	brain:	n/a	n/a
4	POLR2A	chr12:57553005-57555326	U87	brain:	n/a	n/a
5	POLR2A	chr12:57554140-57555320	U87	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57530340..57532510-chr12:57555073..57556833,2	MCF-7	breast:
2	chr12:57554968..57556505-chr12:57556636..57559631,2	K562	blood:
3	chr12:57553865..57556618-chr12:57559965..57562866,2	K562	blood:
4	chr12:57548987..57552040-chr12:57553408..57556684,3	K562	blood:

No data

Variant related genes	Relation type
LRP1	TF binding region
ENSG00000123384	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2228192	0.86[AFR][1000 genomes]
rs34144229	0.86[AFR][1000 genomes]
rs34425043	0.86[AFR][1000 genomes]
rs34823206	0.86[AFR][1000 genomes]
rs34856666	1.00[AFR][1000 genomes]
rs35099167	1.00[AFR][1000 genomes]
rs35126021	0.86[AFR][1000 genomes]
rs35308876	0.86[AFR][1000 genomes]
rs35478087	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv899112	chr12:57535266-57601388	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899113	chr12:57543572-57601388	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57523400-57557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57531800-57576000	Strong transcription	Fetal Brain Female	brain
3	chr12:57539400-57556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:57540600-57569400	Strong transcription	Brain Germinal Matrix	brain
5	chr12:57541600-57560800	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:57542200-57565600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:57543200-57558600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:57543400-57558400	Weak transcription	A549	lung
11	chr12:57546600-57565200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:57546800-57557000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:57547000-57556200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:57547000-57565200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:57547000-57575600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:57547000-57575600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:57547200-57558800	Weak transcription	NHEK	skin
19	chr12:57547200-57562400	Weak transcription	Small Intestine	intestine
20	chr12:57547400-57558400	Strong transcription	HSMMtube	muscle
21	chr12:57547400-57567400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:57547400-57575400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:57547600-57560600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:57547600-57575400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:57547600-57575600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:57547800-57557000	Strong transcription	Aorta	Aorta
27	chr12:57547800-57557000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:57547800-57565000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr12:57547800-57565200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:57547800-57565400	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr12:57548000-57556800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:57548000-57560400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:57548200-57557000	Strong transcription	Gastric	stomach
34	chr12:57548400-57556000	Strong transcription	Fetal Brain Male	brain
35	chr12:57548400-57561600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:57549000-57562400	Weak transcription	GM12878-XiMat	blood
37	chr12:57549000-57575200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:57549600-57557000	Strong transcription	HepG2	liver
39	chr12:57550600-57555800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:57552000-57557000	Strong transcription	Lung	lung
41	chr12:57552000-57557200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:57552400-57557400	Strong transcription	Esophagus	oesophagus
43	chr12:57552600-57556200	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:57552600-57556400	Strong transcription	Pancreas	Pancrea
45	chr12:57552600-57557000	Strong transcription	Brain Anterior Caudate	brain
46	chr12:57552600-57557600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:57552600-57563800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:57552600-57565000	Strong transcription	Fetal Stomach	stomach
49	chr12:57552800-57556400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:57552800-57556600	Strong transcription	Fetal Lung	lung

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